| http://purl.uniprot.org/citations/31898316 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31898316 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31898316 | http://www.w3.org/2000/01/rdf-schema#comment | "Erythrokeratoderma (EK) is heterogeneous clinical entity characterized by excessive scaling with resulting erythrokeratotic plaques. Several genes have been linked to EK and they encode a number of proteins that are important for the integrity of the keratinocyte layer of the epidermis. PERP is a transcription factor that is activated by both p53 and p63. However, its deficiency in a mouse model appears to only recapitulate p63-mediated role in skin development and organization. We report an extended multiplex consanguineous family in which an EK phenotype with a striking similarity to that observed in Perp-/- mice, is mapped to an autozygous region on chromosome 6 that spans PERP. Whole-exome sequencing revealed a novel variant in PERP that fully segregated with the phenotype. Functional analysis of patient- and control-derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. Our results, therefore, support the establishment of an autosomal recessive PERP-related EK phenotype in humans."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13699"xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13699"xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Patel N."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Patel N."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Abdulwahab F."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Abdulwahab F."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Shamseldin H.E."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Shamseldin H.E."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alobeid E."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alobeid E."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Helaby R."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Helaby R."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alshidi T."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alshidi T."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alkeraye S."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/author | "Alkeraye S."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/31898316 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |